一种明显孤立的视觉神经病变与SLC25A46中双变异相关,该基因编码了线粒体Ugo1-Like蛋白
Pascal Reynier1,2, Patrizia Amati-Bonneau1,2, Valérie Desquiret-Dumas1,2
1Laboratoire de Biochimie et Biologie moléculaire, Centre Hospitalier Universitaire, Angers, France.
Neuro-ophthalmology (Aeolus Press)
|February 5, 2026
概括
在SLC25A46基因中的致病变体可以导致视神经病变. 这一案例突出显示了SLC25A46基因测试对于孤立的视神经病变,即使没有其他神经症状.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 眼科医生 眼科 眼科
背景情况:
- 在SLC25A46基因中的双样致病变体与几个神经系统疾病有关.
- 这些疾病往往涉及视力缩,但孤立的视力神经病变较少报告.
- 与SLC25A46相关的疾病的范围正在随着新的病例报告而扩大.
研究的目的:
- 报告一种因SLC25A46基因中复合异性变体引起的孤立视神经病变病例.
- 调查这种表现的临床和遗传基础.
- 为了强调SLC25A46在视神经病变中的作用.
主要方法:
- 临床检查和神经生理学测试 (电子神经肌谱) 的病人.
- 基因分析以确定SLC25A46基因中的变异.
- 评估患者衍生纤维细胞中的线粒体功能和结构.
主要成果:
- 一个26岁的女性呈现缓慢进展的,孤立的视神经病变.
- 在SLC25A46基因中发现了复合异构性变体 (NM_138773.4:c.[327-2A>T];[410A>G)).
- 通过电神经镜检测出亚临床外围神经病变,证实了SLC25A46变体的致病性.
- 在纤维细胞中没有发现显著的线粒体异常,与轻度的表型相关.
结论:
- 在视神经病变患者的遗传检测中,包括孤立形式,应考虑SLC25A46基因.
- 这种情况扩大了与SLC25A46变体相关的表型谱.
- 轻度的神经现象可以由SLC25A46致病变体引起,即使没有明显的线粒体功能障碍.
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